ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.722del (p.Thr241fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003154604 SCV003843140 uncertain significance Retinoblastoma 2022-11-02 criteria provided, single submitter clinical testing The RB1 c.722del (p.Thr241LysfsTer23) change causes a frameshift and the creation of a premature stop codon. This change is predicted to cause protein truncation of absence of protein due to nonsense mediated decay. It has been reported in individuals with a personal and/or family history of retinoblastoma (internal data). It is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as pathogenic.

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